autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ORPHA: 436159
Overview
somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, sourced from HPO and Orphanet clinical annotations.
Decreased circulating immunoglobulin concentrationAtopic dermatitisSplenomegalyAutoimmune hemolytic anemiaAutoimmune thrombocytopeniaDiarrheaPneumoniaHepatomegalyLymphadenopathyDecreased circulating IgA concentrationRecurrent lower respiratory tract infectionsRecurrent upper respiratory tract infectionsDecreased circulating total IgMDecreased circulating IgG concentrationEczematoid dermatitisGrowth delayAutoimmune neutropeniaInflammation of the large intestineBronchiectasisAtrophic gastritisLymphomaPsoriasiform dermatitisRecurrent candida infectionsLymphocytic infiltration of the colorectal mucosaCrohn's diseaseThyroiditisType I diabetes mellitusSepsisBilateral tonic-clonic seizurePure red cell aplasiaOptic neuritis
Classification & Codes
Orphanet Code
ORPHA:436159autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
| Orphanet | ORPHA:436159 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO